ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1328G>A (p.Arg443His)

gnomAD frequency: 0.00006  dbSNP: rs373212439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851680 SCV000899480 uncertain significance Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000851680 SCV002515642 uncertain significance Hereditary factor XI deficiency disease no assertion criteria provided research

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